rs730880316

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(G;G)	0	common in clinvar

Make rs730880316(-;-)

Make rs730880316(-;G)

Reference

GRCh38.p2 38.2/144

Chromosome

2

Position

88738000

Gene

RPIA

is a	snp
is	mentioned by
dbSNP	rs730880316
dbSNP (classic)	rs730880316
ClinGen	rs730880316
ebi	rs730880316
HLI	rs730880316
Exac	rs730880316
Gnomad	rs730880316
Varsome	rs730880316
LitVar	rs730880316
Map	rs730880316
PheGenI	rs730880316
Biobank	rs730880316
1000 genomes	rs730880316
hgdp	rs730880316
ensembl	rs730880316
geneview	rs730880316
scholar	rs730880316
google	rs730880316
pharmgkb	rs730880316
gwascentral	rs730880316
openSNP	rs730880316
23andMe	rs730880316
SNPshot	rs730880316
SNPdbe	rs730880316
MSV3d	rs730880316
GWAS Ctlg	rs730880316

Max Magnitude

0

ClinVar
Risk	rs730880316(-;-)
Alt	rs730880316(-;-)
Reference	Rs730880316(G;G)
Significance	Pathogenic
Disease	Deficiency of ribose-5-phosphate isomerase
Variation	info
Gene	RPIA
CLNDBN	Deficiency of ribose-5-phosphate isomerase
Reversed	0
HGVS	NC_000002.11:g.89037517delG
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000013881.28,